melanoma, cutaneous malignant, susceptibility to, 8

Rare Disease

MONDO:0013759

Also Known As

MITF-related melanoma and renal cell carcinoma predisposition syndromemelanoma, cutaneous malignant, susceptibility to, 8melanoma, cutaneous malignant, susceptibility to, type 8CMM8melanoma and renal cell carcinoma, susceptibility tosusceptibility to cutaneous malignant melanoma 8

Definition

An inherited cancer-predisposing syndrome due to a gain-of-function germline mutation in the MITF gene, associated with a higher incidence of amelanotic and nodular melanoma, multiple primary melanomas and increase in nevus number and size. It may also predispose to co-occurring melanoma and renal cell carcinoma and to pancreatic cancer.